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Q14331

- FRG1_HUMAN

UniProt

Q14331 - FRG1_HUMAN

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Protein

Protein FRG1

Gene

FRG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase SUV420H1.5 Publications

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. mRNA splicing, via spliceosome Source: UniProtKB
  2. muscle organ development Source: UniProtKB-KW
  3. rRNA processing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing, Myogenesis, Ribosome biogenesis, rRNA processing

Keywords - Ligandi

Actin-binding, RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FRG1
Alternative name(s):
FSHD region gene 1 protein
Gene namesi
Name:FRG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:3954. FRG1.

Subcellular locationi

NucleusCajal body. Nucleusnucleolus. Cytoplasm. CytoplasmmyofibrilsarcomereZ line
Note: Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation. Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation.

GO - Cellular componenti

  1. catalytic step 2 spliceosome Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.2 Publications
Note: The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of SUV420H1, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs.2 Publications

Organism-specific databases

MIMi158900. phenotype.
Orphaneti269. Facioscapulohumeral dystrophy.
PharmGKBiPA28372.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 258258Protein FRG1PRO_0000220767Add
BLAST

Proteomic databases

MaxQBiQ14331.
PaxDbiQ14331.
PeptideAtlasiQ14331.
PRIDEiQ14331.

PTM databases

PhosphoSiteiQ14331.

Expressioni

Tissue specificityi

Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis.1 Publication

Gene expression databases

BgeeiQ14331.
CleanExiHS_FRG1.
ExpressionAtlasiQ14331. baseline.
GenevestigatoriQ14331.

Interactioni

Subunit structurei

Homodimer and homotetramer in solution. Identified in the spliceosome C complex. Interacts with SUV420H1 (via C-terminus). Interacts (via N-terminus) with KPNA2 and NXF1/TAP. Interacts with F-actin with a stoichiometry of 2:1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CWC22Q9HCG82EBI-2515248,EBI-373289

Protein-protein interaction databases

BioGridi108764. 7 interactions.
IntActiQ14331. 4 interactions.
MINTiMINT-3029354.
STRINGi9606.ENSP00000226798.

Structurei

3D structure databases

ProteinModelPortaliQ14331.
SMRiQ14331. Positions 41-188.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi22 – 3211Nuclear localization signalSequence AnalysisAdd
BLAST
Motifi235 – 25117Bipartite nuclear localization signalSequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi8 – 3225Lys-richAdd
BLAST

Sequence similaritiesi

Belongs to the FRG1 family.Curated

Phylogenomic databases

eggNOGiNOG289849.
GeneTreeiENSGT00390000004552.
HOGENOMiHOG000007130.
HOVERGENiHBG018564.
InParanoidiQ14331.
KOiK13122.
OMAiSTRERWE.
PhylomeDBiQ14331.
TreeFamiTF314108.

Family and domain databases

InterProiIPR008999. Actin_cross-linking.
IPR010414. FRG1.
[Graphical view]
PANTHERiPTHR12928. PTHR12928. 1 hit.
PfamiPF06229. FRG1. 1 hit.
[Graphical view]
SUPFAMiSSF50405. SSF50405. 1 hit.

Sequencei

Sequence statusi: Complete.

Q14331 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV
60 70 80 90 100
TNFGEISGTI AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV
110 120 130 140 150
KLSDSRIALK SGYGKYLGIN SDGLVVGRSD AIGPREQWEP VFQNGKMALL
160 170 180 190 200
ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI RSCAERETKK KDDIPEEDKG
210 220 230 240 250
NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL HETLLDRRAK

LKADRYCK
Length:258
Mass (Da):29,172
Last modified:November 1, 1996 - v1
Checksum:iFFBC981B7602BDB3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191T → A.
Corresponds to variant rs17797703 [ dbSNP | Ensembl ].
VAR_049105
Natural varianti66 – 661K → E.
Corresponds to variant rs17406826 [ dbSNP | Ensembl ].
VAR_033938

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L76159 mRNA. Translation: AAA95939.1.
AF146191 Genomic DNA. Translation: AAD46768.1.
AK291890 mRNA. Translation: BAF84579.1.
CH471056 Genomic DNA. Translation: EAX04600.1.
BC053997 mRNA. Translation: AAH53997.1.
CCDSiCCDS34121.1.
RefSeqiNP_004468.1. NM_004477.2.
UniGeneiHs.203772.

Genome annotation databases

EnsembliENST00000226798; ENSP00000226798; ENSG00000109536.
GeneIDi2483.
KEGGihsa:2483.
UCSCiuc003izs.3. human.

Polymorphism databases

DMDMi18202499.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L76159 mRNA. Translation: AAA95939.1 .
AF146191 Genomic DNA. Translation: AAD46768.1 .
AK291890 mRNA. Translation: BAF84579.1 .
CH471056 Genomic DNA. Translation: EAX04600.1 .
BC053997 mRNA. Translation: AAH53997.1 .
CCDSi CCDS34121.1.
RefSeqi NP_004468.1. NM_004477.2.
UniGenei Hs.203772.

3D structure databases

ProteinModelPortali Q14331.
SMRi Q14331. Positions 41-188.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108764. 7 interactions.
IntActi Q14331. 4 interactions.
MINTi MINT-3029354.
STRINGi 9606.ENSP00000226798.

PTM databases

PhosphoSitei Q14331.

Polymorphism databases

DMDMi 18202499.

Proteomic databases

MaxQBi Q14331.
PaxDbi Q14331.
PeptideAtlasi Q14331.
PRIDEi Q14331.

Protocols and materials databases

DNASUi 2483.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000226798 ; ENSP00000226798 ; ENSG00000109536 .
GeneIDi 2483.
KEGGi hsa:2483.
UCSCi uc003izs.3. human.

Organism-specific databases

CTDi 2483.
GeneCardsi GC04P190861.
GeneReviewsi FRG1.
H-InvDB HIX0058694.
HIX0176447.
HGNCi HGNC:3954. FRG1.
MIMi 158900. phenotype.
601278. gene.
neXtProti NX_Q14331.
Orphaneti 269. Facioscapulohumeral dystrophy.
PharmGKBi PA28372.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289849.
GeneTreei ENSGT00390000004552.
HOGENOMi HOG000007130.
HOVERGENi HBG018564.
InParanoidi Q14331.
KOi K13122.
OMAi STRERWE.
PhylomeDBi Q14331.
TreeFami TF314108.

Miscellaneous databases

ChiTaRSi FRG1. human.
GeneWikii FRG1.
GenomeRNAii 2483.
NextBioi 9821.
PROi Q14331.
SOURCEi Search...

Gene expression databases

Bgeei Q14331.
CleanExi HS_FRG1.
ExpressionAtlasi Q14331. baseline.
Genevestigatori Q14331.

Family and domain databases

InterProi IPR008999. Actin_cross-linking.
IPR010414. FRG1.
[Graphical view ]
PANTHERi PTHR12928. PTHR12928. 1 hit.
Pfami PF06229. FRG1. 1 hit.
[Graphical view ]
SUPFAMi SSF50405. SSF50405. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements."
    van Geel M., Heather L.J., Lyle R., Hewitt J.E., Frants R.R., de Jong P.J.
    Genomics 61:55-65(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skeletal muscle.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  6. "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."
    Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J.
    RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
  7. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  8. Cited for: OVEREXPRESSION, INVOLVEMENT IN FSHD1.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein."
    Hanel M.L., Sun C.Y., Jones T.I., Long S.W., Zanotti S., Milner D., Jones P.L.
    Differentiation 81:107-118(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  11. "Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein."
    Sun C.Y., van Koningsbruggen S., Long S.W., Straasheijm K., Klooster R., Jones T.I., Bellini M., Levesque L., Brieher W.M., van der Maarel S.M., Jones P.L.
    J. Mol. Biol. 411:397-416(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, HOMODIMERIZATION, HOMOTETRAMERIZATION, INTERACTION WITH KPNA2 AND NXF1, RNA-BINDING, ACTIN-BINDING, SUBCELLULAR LOCATION, NUCLEAR LOCALIZATION SIGNAL.
  12. "FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis."
    Neguembor M.V., Xynos A., Onorati M.C., Caccia R., Bortolanza S., Godio C., Pistoni M., Corona D.F., Schotta G., Gabellini D.
    J. Mol. Cell Biol. 5:294-307(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, OVEREXPRESSION, SUBCELLULAR LOCATION, INTERACTION WITH SUV420H1, INVOLVEMENT IN FSHD1.

Entry informationi

Entry nameiFRG1_HUMAN
AccessioniPrimary (citable) accession number: Q14331
Secondary accession number(s): A8K775
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Was originally thought to be located in nuclear speckles based on overexpression of the protein (PubMed:15060122). However, the endogenous protein was later shown not be expressed in nuclear speckles (PubMed:21699900).2 Publications

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3